OBO ID: DOID:0111849
Term Name: osteogenesis imperfecta type 20 Search Ontology:
Synonyms:
  • OI20
  • osteogenesis imperfecta type XX
Definition: An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. https://www.ncbi.nlm.nih.gov/pubmed/31564437
References:
Ontology: Human Disease   ( DOID:0111849 )
Relationships
is a type of:
OTHER osteogenesis imperfecta type 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MESD Osteogenesis imperfecta, type XX 618644
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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